Copper speciation and total essential trace element levels in Wilson's disease.

Area of Science:

• Biochemistry
• Medical Genetics
• Clinical Chemistry

Background:

• Wilson's disease (WD) is a rare genetic disorder affecting copper metabolism.
• Impaired copper homeostasis leads to toxic accumulation in organs.

Purpose of the Study:

• To compare essential trace element levels in plasma and urine of WD patients and controls.
• To analyze copper (Cu) speciation in plasma and assess therapy impacts.

Main Methods:

• Inductively coupled plasma mass spectrometry (ICP-MS) for total element analysis.
• High-performance liquid chromatography coupled to ICP-MS (HPLC-ICP-MS) for Cu speciation (Cu-ceruloplasmin, Cu-human serum albumin, Cu-low molecular mass).

Main Results:

• WD patients exhibited lower plasma Cu, higher plasma Zn and Se compared to controls.
• Urine analysis revealed higher Cu and Zn, and lower Se, Cobalt (Co), and Molybdenum (Mo) in WD patients.
• Therapies influenced Zn, Se, and Cu levels; long-term treatment altered Cu-HSA and Cu-LMM fractions.

Conclusions:

• Essential trace element profiles differ significantly in WD patients.
• Drug therapies alter trace element levels and Cu speciation.
• Altered Cu-HSA and Cu-LMM fractions may serve as potential plasma biomarkers for WD.